Risultati per: Le campagne di screening come strumento di prevenzione oncologica tra dubbi e certezze

Circulation, Volume 146, Issue Suppl_1, Page A13601-A13601, November 8, 2022. Introduction:Truncating variants inTTN(TTNtvs) are the largest genetic cause of dilated cardiomyopathies (DCM). In populations, genetic variation inTTNis pervasive and penetrance estimates for DCM are low, even when carriers are limited to those withTTNtvs in exons with “percentage spliced in” index > 90 (hiPSI), a representation of constitutive cardiac expression. Patients with cardiomyopathies (CM) often carry a large number of other cardiac conditions, such as atrial fibrillation (Afib). We sought to confirm this association and determine whether the presence of Afib and a hiPSITTNtv predicted CM.Results:Leveraging clinicogenomic data from ~450,000 individuals in two health systems, we show support for associations with both CM and Afib at the population level. We perform a sliding window analysis ofTTNtvs and confirm the association is specific to hiPSI exons, with no meaningful associations in exons with less cardio expression. The combination of hiPSITTNtv carrier status and early Afib diagnosis (dx before age 60) finds a subset ofTTNcarriers at high risk for CM (34% prevalence) – this risk is 3.5 fold higher than that of all hiPSITTNtv carriers (9% prevalence) and 5-fold higher than non-carriers with early Afib (5% prevalence, p=4.8e-56 after controlling for age and sex). Further, Afib either predates or is concurrently diagnosed with CM in 72% of those with both diagnoses.Conclusion:CM and Afib are linked in hiPSITTNtv carriers and may represent progressive manifestations of structurally-based heart failure. Our retrospective analysis suggests hiPSITTNtv screening (~0.5% of cohorts) in conjunction with routine monitoring for arrhythmias may be an effective strategy to improve outcomes and reduce the incidence of severe cardio outcomes in the population.

Circulation, Volume 146, Issue Suppl_1, Page A12279-A12279, November 8, 2022. Introduction:Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-c) and very high risk of premature atherosclerotic cardiovascular (ASCVD) and aortic/supraortic valve heart diseases (VHD). The study aim was to examine clinical and biochemical trajectories of a cohort of HoFH patients since childhood.Methods:In this longitudinal study we assessed the incidence of manifest or subclinical ASCVD (coronary or carotid) and VHD as well as plasma lipids in a cohort of HoFH subjects during a 12.9 ± 9.6 years follow-up.Results:From the 868 individuals ≤19 y-old (at baseline) that were genotyped on a genetic cascade screening program, 420 (48.4%) had an FH mutation. From children bearing mutations, 12 were true homozygotes and 1 was compound heterozygote (53.8% females, mean age 7.5 ± 4.1 years at the first visit). During follow-up all were on statin and ezetimibe therapies, and the mean final dose of atorvastatin was 56 ± 27 mg/d (n=10); and rosuvastatin, 26 ± 17 mg/d (n=3). Initial and on treatment LDL-c were 655 ± 177 mg/dL and 399 ± 150 mg/dL, respectively, with a mean 39.1% reduction (-256 mg/dL). None were under LDL apheresis; 2 patients used mipomersen, 2 lomitapide, and 2 are currently using PCSK9 inhibitors. Subclinical cardiovascular disease, either coronary, carotid or in aortic valve, was identified in 38.5% (n=5; mean age 16.4 ± 9.8 years), whereas 30.8% had a clinical cardiovascular event (n=4; mean age 22.8 ± 6.8 years), with 2 deaths. Therefore, 69.3% had either subclinical or manifest cardiovascular disease.Conclusion:Despite early diagnosis and LDL-c reduction HoFH is still marked by an adverse and premature cardiovascular disease progression. Conventional lipid lowering therapies are not adequate to prevent ASCVD and VHD disease course.

Circulation, Volume 146, Issue Suppl_1, Page A13817-A13817, November 8, 2022. Previous studies from India reported management of diabetes (diagnosed: 53%, treated: 41%) among adults 15-49 years, a fraction of those suffering from disease. This study aimed to provide nationally-representative estimates of (i) the proportion of all adults (18+ years) with prediabetes and diabetes mellitus (DM), and (ii) the heterogeneity in their cascade of care by natal sex, age, and urbanicity.Methods:Using data from non-pregnant women (n = 959,468) and men (n = 935,829) in the National Family Health Survey-V (2019-21), we estimated the sex-specific prevalence of prediabetes and DM (see footnotes ofFigure), and among adults with diabetes, the self-reported care cascade (ever screened, diagnosed, taking medication, under control defined by normoglycemia). All estimates incorporated the complex survey design and were stratified by urban versus rural or by age group (18-39, 40-64, 65+).Results:Nationally, the prevalence of prediabetes and DM were 11.3% (95%CI: 11.1,11.4) and 6.5% (95%CI: 6.4, 6.6) respectively. Prediabetes was similar in urban areas (vs rural areas) among men (%; 12.9 vs 12.0) and women (%; 11.1 vs 10.1). DM was higher in urban areas (vs rural areas) among men (%; 8.8 vs 5.6) and women (9.0 vs 5.3). Both prediabetes and DM were higher with increasing age. Screening in the total population was 30%, and was higher in urban areas, among women and higher with age. Among those with DM, only 72%, 51%, and 29% reported being diagnosed, taking medication, and under control, respectively. Diagnosis, treatment and control were also higher in urban areas, women, and older age groups (Figure).Conclusions:Despite the high prevalence of diabetes, there is a high unmet need in screening, diagnosis, treatment and control of disease nationally, and this is pronounced in rural adults. Moreover, the prevalence of prediabetes is high in rural areas, and those under 40 years, requiring a comprehensive approach for prevention and management.

Circulation, Volume 146, Issue Suppl_1, Page A10579-A10579, November 8, 2022. Introduction:The clinical implications of incidental premature ventricular contractions (PVCs) are poorly understood. Though controversial, athletes often receive electrocardiograms (ECGs) during pre-participation exams. The prevalence and morphologies of PVCs in this cohort have not been widely reported. Recent studies have defined benign PVC morphologic patterns in athlete populations that may guide clinical evaluations.Methods:Digital ECGs were obtained from 10,728 screened athletes aged 14 to 35 at school and professional team screenings in California. Captured PVCs were analyzed using simultaneous frontal and horizontal plane leads, displaying each standard ECG lead in full-length, allowing for morphologic categorization. PVCs were coded for morphology and benign status using recommended criteria outlined in Figure 1.Results:Twenty-six of 10,728 athletes (0.24%) had at least one PVC (Figure 1); 7 of those (27%) had bigeminy and 3 of those (12%) had trigeminy. Overall, participants were 43% female, 62% White, 12% Black, 9% Asian, and 8% Hispanic. Of those with PVCs, 50% were female, 65% were White, 23% were Black, 8% were Asian, and 4% were Hispanic. Twenty-four ECGs (92%) had PVCs with benign patterns, including 17 with right ventricular outflow tract, 5 with left anterior fascicle, and 2 with left posterior fascicle morphology. Two ECGs had non-benign PVCs with left bundle branch patterns and superior axes. Both of these athletes had normal echocardiograms and exercise testing and are being followed closely.Conclusions:We found a low prevalence of PVCs on routine ECG screening of young athletes, although evaluation of PVC prevalence and frequency are limited by the short duration of an ECG. Most incidental PVCs among young athletes had benign patterns. This study also demonstrates the value of digital ECG recorders to display simultaneous frontal and horizontal plane leads for the morphologic categorization of PVCs which may guide further workup.

Circulation, Volume 146, Issue Suppl_1, Page A14324-A14324, November 8, 2022. Introduction:Untreated obstructive sleep apnea (OSA) is a major cause of uncontrolled atrial fibrillation (AF). It represents a high prevalence and incidence, as well as significant cause of mortality. Uncontrolled AF with recurrent emergency department (ED) visits and inpatient admissions poses a burden to patient quality of life and increased risk of cardiovascular events, in addition to healthcare costs.Hypothesis:We aim to reduce ED visits and hospitalizations for General Internal Medicine resident clinic patients with OSA and uncontrolled AF over the next year by 10%.Methods:We identified approximately 382 patients with inclusion criteria of age 18-70 years with a history of both AF and OSA without documented CPAP use. Interventions included a week long educational session to all residents starting March 2022, standardizing CPAP device ordering/monitoring, and patient education. A protocol for sleep study ordering and CPAP titration was implemented across clinics. The next phase is inpatient screening and referrals.Results:Prior to our intervention date, 14.7% of our study population presented with uncontrolled AF in the past year. Since our interventions, 2.4% have presented with uncontrolled AF.Conclusions:Our preliminary interventions have shown a numerical trend towards decreasing rates of uncontrolled AF in patients with OSA at our institution. Our interventions are ongoing with periodic evaluation of outcomes. Our findings support the need for a comprehensive approach targeting both providers and patients.

Circulation, Volume 146, Issue Suppl_1, Page A11937-A11937, November 8, 2022. Introduction:Isolated cardiac sarcoidosis (ICS) poses a diagnostic challenge due to its patchy myocardial involvement and low yield of endomyocardial biopsy (EMB). The diagnosis is often suggested by (18)F-fluorodeoxyglucose (FDG) avidity on positron emission tomograpy (PET) scan. Genetic cardiomyopathies (some of which may be FDG-avid) often present with similar clinical manifestations as ICS, so we evaluated a systematic screening strategy in which all patients with suspected ICS were offered genetic testing.Methods:We reviewed all patients in our Multi-Disciplinary Sarcoid Consortium for those given a diagnosis of ICS by the referring provider based on FDG-PET scans with myocardial but no systemic FDG avidity. These patients were offered genetic testing with commercially available genetic cardiomyopathy and arrhythmia panels (168 genes).Results:Of 110 patients referred, 16 met inclusion criteria, 1 had EMB-proven ICS, 1 did not consent, and 14 were referred for genetic testing. Ten patients (71%) also underwent cardiac MRI, of which 9 had late gadolinium enhancement. Mean age was 61.7±11.6 years, 12 (86%) were male. Mean ejection fraction at time of presentation was 43±10%. Four patients (29%) had presented with atrio-ventricular block, 12 (86%) with ventricular arrhythmias and 12 (86%) with left ventricular systolic dysfunction. Eight (57%) had EMB without granulomas (6 had not undergone EMB). Of these 14 patients, 5 (36%) had pathogenic mutations: 2 inLMNA,2 inTPM1,and 1 inMYBPC3. All 5 patients’ clinical phenotype was consistent with their genotype and 3 had previously been immunosuppressed without clinical improvement or resolution of FDG avidity.Conclusions:Genetic cardiomyopathy is often misdiagnosed as “isolated cardiac sarcoid.” A screening strategy of genetic testing all patients with isolated myocardial FDG avidity on FDG-PET scans had a 36% yield for pathogenic mutations and should be considered as part of routine clinical care.

Circulation, Volume 146, Issue Suppl_1, Page A13811-A13811, November 8, 2022. Introduction:Despite known differences in electrocardiographic (ECG) findings by sex, only empirical thresholds for both sexes exist in current ECG guidelines for screening athletes for risk of sudden cardiac death (SCD). We hypothesize that our large dataset – with diversity in age, race, and sport participation – can be utilized to improve ECG screening in female athletes.Methods:Computerized 12-lead ECGs were recorded and analyzed in female athletes who underwent PPE between 06/2010 and 09/2021. The 2017 international criteria for ECG interpretation were compared to either the 99th percentile in our cohort or the percentile that corresponded to the known disease prevalence for HCM and Long QT syndrome. For ST depression the 99.5th percentile, a marker for HCM, was used; for QTc prolongation, the 99.9th percentile was used. RS wave amplitude was considered a marker for hypertrophy or low voltage.Results:Of 3476 athletes, the 2017 international criteria classified 2.2% with at least one ECG abnormality requiring cardiological evaluation. Rates were similar across ages, race/ethnicity, and sporting discipline. Using a percentile approach based on our population, 3.3% would require additional workup. Surprisingly, ST depression up to 0.03 mV was a normal finding in this cohort. If RS voltage extremes were considered abnormal findings, an additional 9.6% of the population would be flagged using current definitions. This number decreases to 3.4% if using the 99th percentile.Conclusions:These results highlight a difference in the reported prevalence of ECG abnormalities when comparing empirically derived thresholds to statistically derived ranges that fall outside the 99th percentile. Consideration of new metrics specific to the female athlete population has the potential to further refine athlete ECG screening.

Circulation, Volume 146, Issue Suppl_1, Page A10560-A10560, November 8, 2022. Introduction.The mHealth Screening to Prevent Strokes (mSToPS) study reported that, compared with standard care, screening older Americans for AF using 2-week Zio patch monitors increased AF diagnosis and oral anticoagulant prescription within one year. The monitored group was also observed to have fewer strokes and deaths at 3 years. The cost-effectiveness of AF screening in this manner has not been explored.Methods.We conducted a health economic analysis of AF screening with Zio patch monitors using patient-level data from the mSToPS study. Clinical outcomes and costs from the payer perspective were obtained from enrollment through 3 years using Aetna claims data. Individual costs, survival and quality-adjusted survival (QALYs) were projected over a lifetime horizon using regression modeling, US life tables and external literature where needed. Potential imbalances between groups were adjusted for with propensity score bin bootstrapping.Results.Study group participants (mean age 74 years, 41% female, median CHA2DS2-VASC score 3) wore an average of 1.7 two-week monitors at an average cost of $601/person. Over 3 years, monitored individuals were more likely than unmonitored to have outpatient visits, including to cardiology, but less likely to require emergency department visits or hospitalization (see Table). Pharmacy costs over 3 years were similar between groups. Total adjusted 3-year costs, including monitors, were slightly higher (difference $1,170, 95% CI -1315 to 3657) in the monitoring group. In patient-level projections, the monitoring group had slightly better total and quality-adjusted survival (11.91 vs. 11.82 life years, 9.38 vs. 9.30 QALYs) and slightly higher lifetime costs, resulting in an incremental cost-effectiveness ratio of $16,978/QALY gained.Conclusions.Based on lifetime projections derived from the mSToPS study, we found AF screening using 2-week Zio patch monitors to provide high value from a health economic perspective.

Circulation, Volume 146, Issue Suppl_1, Page A10856-A10856, November 8, 2022. Introduction:Prior AF screening trials demonstrated low yield, highlighting the need for more targeted approaches. An AI algorithm was developed to identify ECG signatures of AF risk during normal sinus rhythm, which has been validated in diverse external populations.Hypothesis:An AI-guided, targeted screening approach could improve the diagnosis of AF.MethodsWe conducted a pragmatic decentralized trial to prospectively recruit patients with stroke risk factors but no prior AF. The AI algorithm was applied to the ECGs performed in routine practice and divided patients into high- or low-risk groups. The primary endpoint was AF lasting ≥ 30 seconds on a subsequent 30-day continuous cardiac rhythm monitor. In a secondary analysis, trial participants were 1:1 propensity score-matched to real-world controls derived from the eligible but unenrolled population.ResultsA total of 1,003 patients from 40 U.S. states completed the study, with a mean age of 74 [SD 8.8] years. Over a mean of 22.3 days of continuous monitoring, AF was detected in 6 (1.6%) of low-risk patients and 48 (7.6%) of high-risk patients (OR 4.98 [2.11-11.75], p

Circulation, Volume 146, Issue Suppl_1, Page A12318-A12318, November 8, 2022. Introduction:Pre-eclampsia (Pec) and gestational hypertension (GHT) are potential explanations for the female preponderance of heart failure with preserved ejection fraction. How and when to use this information clinically is unclear.Hypothesis:We hypothesized that subclinical disturbances of left ventricular (LV) structure and function (stage B heart failure, SBHF) are more common at 5-10 years post-partum in women with a history of Pec compared with women with GHT or uneventful pregnancies.Methods:The proportion of SBHF were compared between 25 women with Pec, 16 with GHT or normal pregnancy. Sub-group analysis comparing patients with and without hypertension at follow-up were also conducted.Results:Among 41 participants (age 40±6 years), followed at 9 years, SBHF was reported in 35% participants with Pec and 53% with GHT (p=0.32). Diastolic blood pressure was significantly higher in patients with SBHF than without (94±21 vs. 81±13 mmHg, p=0.035), and a similar trend was observed with systolic blood pressure (147±42 vs. 128±22mmHg, p=0.099). SBHF was observed in 6 (55%) of 11 pts with hypertension at follow-up, but only in 7 (32%) of 22 without (p=0.27). Mean LV end-diastolic volume (117.2±19.1 vs. 93.3±13.1mL,p=0.03), LV end-systolic volume (51.9±7.5 vs. 42±7 mL,p=0.04), LV mass index (73±8.6 vs. 67.3±14.6mmHg, p=0.41), E/e’ (Sept: 9.7±2.7 vs. 7.5±1.7,p=0.009; Lat: 7.4±2.6 vs. 5.5±1.7,p=0.02) were higher in participants with hypertension than without.Conclusions:9 years after pregnancy, SBHF was prevalent in pts with both previous Pec and GHT, but was not significantly different between the entities. Echocardiographic screening may add little to blood pressure follow-up in the identification of HF risk.

Circulation, Volume 146, Issue Suppl_1, Page A11199-A11199, November 8, 2022. Introduction:Postpartum depression (PPD) affects 1 in 5 women in the United States and is associated with cardiovascular disease. Disparities in PPD screening have not been well studied. We investigated the level of self-reported screening, diagnosis of PPD, and disparities in screening.Methods:We utilized data from participants enrolled in the AHA Research Goes Red Registry, an online research platform powered by Verily, who responded to the Fertility and Pregnancy survey. Of the 3128 women who had responded as of May 2022, 311 participants were self-identified as postpartum women and were included in this analysis. The definition of postpartum in the survey was“I have been pregnant within the last 12 months”. The survey included questions on PPD screening and diagnosis. We used chi-squared testing to examine differences by race-ethnicity, education, income, and proximity to healthcare in PPD screening.Results:Among the 311 postpartum women (mean age: 33.3 ± 4.8 years), 83% recalled being screened for PPD. Of the 311 women, 15% reported a diagnosis of PPD, of which 92% received treatment. There were no significant differences in PPD screening by race-ethnicity: non-Hispanic White (82%), non-Hispanic Black (83%), Asian (88%), Hispanic (80%) (p=0.91), possibly limited by sample size (Fig 1a). Similarly, there were no significant differences by educational status (p=0.22) (Fig 1b) or income (p=0.53) (Fig 1c). Women who lived in a big city with access to many hospitals had higher proportion of screening (88%), while rural area dwellers had the least (74%, p=0.54) (Fig 1d).Conclusion:Among this multiracial cohort of postpartum women, the prevalence of self-reported screening and diagnosis of PPD was 83% and 15%, respectively. The prevalence of screening did not significantly differ by race-ethnicity, education, income, and proximity to healthcare. Future larger studies were suggested to explore screening of PPD by race and other social determinants of health.

Circulation, Volume 146, Issue Suppl_1, Page A9822-A9822, November 8, 2022. Background:Data mining of electronic health records (EHR) has been used as a strategy to identify patients with undiagnosed familial hypercholesterolemia (FH). Most studies have been limited by the absence of both phenotypic and genotypic data in the same cohort.Methods:Using a subset of the Geisinger MyCode Community Health Initiative (MyCode) cohort with both exome sequencing and EHR data (n=130,257), we ran two FH screening algorithms to determine genetic and phenotypic diagnostic yields: the Mayo Clinic algorithm (Mayo), which identifies those with LDL-C levels >190 mg/dL, and FIND FH®, the Family Heart Foundation’s machine learning model, to identify individuals with phenotypes suggestive of FH. With 29,243 excluded by Mayo (for secondary causes of hypercholesterolemia, no lipid value in EHR), 52,034 excluded by FIND-FH (insufficient data to run the model), and 187 excluded for prior FH diagnosis, a final cohort of 59,729 participants screened by both algorithms was created. Genetic diagnosis was based on the presence of a pathogenic or likely pathogenic (P/LP) variant in 3 genes implicated in FH via genomic screening. Charts from 180 variant negative participants (60 controls; 120 identified by FIND FH and/or Mayo) were reviewed to calculate Dutch Lipid Clinic Network scores; a score >5 defined probable or definite FH.Results:Mayo flagged 10,415 subjects; 164 (1.6%) had an FH P/LP variant. FIND-FH flagged 573; 28 (4.9%) had an FH P/LP variant giving a net yield from both algorithms of 167/240 (70%). Confirmation of a phenotypic diagnosis was constrained by lack of EHR data on physical findings or family history (high cholesterol, premature atherosclerotic disease) required for score calculation. Phenotypic FH by chart review was present by Mayo and/or FIND-FH in 13/120 vs 2/60 not flagged by either (p< 0.09).Conclusion:After excluding those with a prior FH diagnosis, applying two recognized phenotypic FH screening algorithms to the eligible MyCode cohort identified 70% of those with a P/LP FH variant. Limitations to this approach include participant exclusions for each algorithm, a low yield of positive genomic screening for Mayo, and a low yield of participants for FIND FH. Phenotypic diagnosis was rarely achievable due to missing data.

65% di chi ne soffre vive in città,10 azioni per migliorare vita

Purpose
Risk factor-based models struggle to accurately predict the development of cardiovascular disease (CVD) at the level of the individual. Ways of identifying people with low predicted risk who will develop CVD would allow stratified advice and support informed treatment decisions about the initiation or adjustment of preventive medication, and this is the aim of this prospective cohort study.

Participants
The Tayside Screening for Cardiac Events (TASCFORCE) study recruited men and women aged≥40 years, free from known CVD, with a predicted 10-year risk of coronary heart disease

Annals of Internal Medicine, Volume 175, Issue 10, Page W114, October 2022.

Annals of Internal Medicine, Volume 175, Issue 10, Page W114-W115, October 2022.